ClinVar Miner

Variants in gene AP5Z1 with conflicting interpretations

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Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic) 		Variants with a confidence conflict
(e.g. benign vs likely benign) 		Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects) 		Variants with a clinically significant conflict
(e.g. benign vs pathogenic) 		Variants with any conflict
868 60 0 30 55 0 3 78

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 1 2 0 0
likely pathogenic 1 0 1 0 0
uncertain significance 2 1 0 40 17
likely benign 0 0 40 0 29
benign 0 0 17 29 0

All variants with conflicting interpretations #

Total variants: 78
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_014855.3(AP5Z1):c.759C>T (p.Ser253=) rs17135121 0.22358
NM_014855.3(AP5Z1):c.1124T>A (p.Leu375Gln) rs11772411 0.05021
NM_014855.3(AP5Z1):c.1131C>T (p.His377=) rs11768079 0.04978
NM_014855.3(AP5Z1):c.1708-14C>T rs118139547 0.02183
NM_014855.3(AP5Z1):c.2098G>A (p.Val700Met) rs11766611 0.01795
NM_014855.3(AP5Z1):c.333G>C (p.Gln111His) rs11549840 0.01556
NM_014855.3(AP5Z1):c.1197G>A (p.Glu399=) rs117666541 0.01551
NM_014855.3(AP5Z1):c.2379G>T (p.Thr793=) rs77393809 0.01379
NM_014855.3(AP5Z1):c.281C>G (p.Ser94Cys) rs11549839 0.01367
NM_014855.3(AP5Z1):c.379G>A (p.Glu127Lys) rs115454162 0.01129
NM_014855.3(AP5Z1):c.1708-5C>T rs184752711 0.00977
NM_014855.3(AP5Z1):c.1132+14G>T rs139019097 0.00792
NM_014855.3(AP5Z1):c.2230G>A (p.Ala744Thr) rs183580097 0.00602
NM_014855.3(AP5Z1):c.791-5C>T rs73671921 0.00595
NM_014855.3(AP5Z1):c.369T>C (p.Gly123=) rs182431279 0.00474
NM_014855.3(AP5Z1):c.1557A>G (p.Gln519=) rs201687417 0.00341
NM_014855.3(AP5Z1):c.126C>T (p.Leu42=) rs146682319 0.00321
NM_014855.3(AP5Z1):c.900C>T (p.Tyr300=) rs146915189 0.00319
NM_014855.3(AP5Z1):c.881G>A (p.Arg294Gln) rs200957609 0.00278
NM_014855.3(AP5Z1):c.366+5C>T rs143800095 0.00227
NM_014855.3(AP5Z1):c.481G>A (p.Val161Met) rs191971593 0.00201
NM_014855.3(AP5Z1):c.1062C>T (p.His354=) rs192441133 0.00114
NM_014855.3(AP5Z1):c.1563G>A (p.Leu521=) rs182411153 0.00105
NM_014855.3(AP5Z1):c.558C>T (p.Tyr186=) rs371534878 0.00092
NM_014855.3(AP5Z1):c.999C>T (p.Asp333=) rs201196622 0.00079
NM_014855.3(AP5Z1):c.1773C>T (p.Tyr591=) rs372922535 0.00073
NM_014855.3(AP5Z1):c.1936G>A (p.Val646Met) rs200280538 0.00065
NM_014855.3(AP5Z1):c.1964C>T (p.Ser655Leu) rs61750324 0.00065
NM_014855.3(AP5Z1):c.1584C>T (p.Gly528=) rs377310579 0.00060
NM_014855.3(AP5Z1):c.849C>T (p.Ala283=) rs572271008 0.00060
NM_014855.3(AP5Z1):c.588C>T (p.Ser196=) rs146665638 0.00053
NM_014855.3(AP5Z1):c.970-5C>T rs373671779 0.00052
NM_014855.3(AP5Z1):c.780C>A (p.Thr260=) rs377507553 0.00046
NM_014855.3(AP5Z1):c.584A>G (p.His195Arg) rs117659667 0.00044
NM_014855.3(AP5Z1):c.1806-15C>T rs201620155 0.00038
NM_014855.3(AP5Z1):c.2400G>A (p.Arg800=) rs368571200 0.00030
NM_014855.3(AP5Z1):c.490A>G (p.Ser164Gly) rs202169962 0.00027
NM_014855.3(AP5Z1):c.1785G>T (p.Gly595=) rs774921196 0.00023
NM_014855.3(AP5Z1):c.1600G>T (p.Ala534Ser) rs372517211 0.00018
NM_014855.3(AP5Z1):c.1473C>G (p.Ser491=) rs370135619 0.00016
NM_014855.3(AP5Z1):c.1965G>A (p.Ser655=) rs543467648 0.00016
NM_014855.3(AP5Z1):c.1953C>T (p.Gly651=) rs200617745 0.00015
NM_014855.3(AP5Z1):c.2375G>A (p.Arg792His) rs201677317 0.00015
NM_014855.3(AP5Z1):c.684C>T (p.Ser228=) rs746349613 0.00014
NM_014855.3(AP5Z1):c.1132+7C>T rs775865217 0.00010
NM_014855.3(AP5Z1):c.1341C>T (p.Thr447=) rs60284677 0.00009
NM_014855.3(AP5Z1):c.259G>A (p.Ala87Thr) rs775883752 0.00009
NM_014855.3(AP5Z1):c.1938+11C>T rs201888478 0.00008
NM_014855.3(AP5Z1):c.1617G>C (p.Leu539=) rs569601905 0.00007
NM_014855.3(AP5Z1):c.1132G>A (p.Gly378Arg) rs777093701 0.00006
NM_014855.3(AP5Z1):c.351C>T (p.Ser117=) rs374912181 0.00006
NM_014855.3(AP5Z1):c.417G>A (p.Ala139=) rs201203264 0.00006
NM_014855.3(AP5Z1):c.1356G>A (p.Ala452=) rs558636596 0.00005
NM_014855.3(AP5Z1):c.1974C>T (p.Tyr658=) rs375030531 0.00005
NM_014855.3(AP5Z1):c.1464G>A (p.Pro488=) rs376913055 0.00004
NM_014855.3(AP5Z1):c.540G>A (p.Leu180=) rs768017182 0.00004
NM_014855.3(AP5Z1):c.660A>G (p.Thr220=) rs756140557 0.00004
NM_014855.3(AP5Z1):c.1455-12C>T rs1038026978 0.00003
NM_014855.3(AP5Z1):c.702C>T (p.Asp234=) rs370728528 0.00002
NM_014855.3(AP5Z1):c.994C>T (p.Leu332=) rs1045333933 0.00002
NM_014855.3(AP5Z1):c.1119C>T (p.Phe373=) rs886062353 0.00001
NM_014855.3(AP5Z1):c.1597T>C (p.Leu533=) rs775572689 0.00001
NM_014855.3(AP5Z1):c.1707+14C>T rs759055397 0.00001
NM_014855.3(AP5Z1):c.1863G>A (p.Glu621=) rs780422345 0.00001
NM_014855.3(AP5Z1):c.392C>T (p.Ala131Val) rs372539355 0.00001
NM_014855.3(AP5Z1):c.412C>T (p.Arg138Ter) rs778457903 0.00001
NM_014855.3(AP5Z1):c.616C>T (p.Arg206Trp) rs761451474 0.00001
NM_014855.3(AP5Z1):c.931C>T (p.Arg311Ter) rs376075583 0.00001
NM_014855.3(AP5Z1):c.1018C>T (p.Pro340Ser) rs561646689
NM_014855.3(AP5Z1):c.1315C>T (p.Leu439=) rs113014863
NM_014855.3(AP5Z1):c.1573A>C (p.Lys525Gln) rs186003800
NM_014855.3(AP5Z1):c.1740G>A (p.Ala580=) rs773950276
NM_014855.3(AP5Z1):c.1794C>T (p.Ala598=) rs374673921
NM_014855.3(AP5Z1):c.2151C>T (p.Pro717=) rs1781745482
NM_014855.3(AP5Z1):c.2153+8G>A rs189564026
NM_014855.3(AP5Z1):c.2305A>G (p.Thr769Ala) rs188569082
NM_014855.3(AP5Z1):c.2328C>A (p.Ser776Arg) rs192794637
NM_014855.3(AP5Z1):c.969+3_969+6dup rs748280348

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